DisGeNET - a database of gene-disease associations

Source: ALL

Variant: rs121912654 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs121912654

TP53

0.683

0.400

7675143

missense variant

C/A;T

snv

4.0E-05

CUI:	C2239176
Disease:	Liver carcinoma

Liver carcinoma

0.720

1.000

2011

dbSNP:

rs121912654

TP53

0.683

0.400

7675143

missense variant

C/A;T

snv

4.0E-05

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

1.000

1998

2011

dbSNP:

rs121912654

TP53

0.683

0.400

7675143

missense variant

C/A;T

snv

4.0E-05

CUI:	C0919267
Disease:	ovarian neoplasm

ovarian neoplasm

0.700

dbSNP:

rs121912654

TP53

0.683

0.400

7675143

missense variant

C/A;T

snv

4.0E-05

CUI:	C0025202
Disease:	melanoma

melanoma

0.020

1.000

2013

2016

dbSNP:

rs121912654

TP53

0.683

0.400

7675143

missense variant

C/A;T

snv

4.0E-05

CUI:	C0151779
Disease:	Cutaneous Melanoma

Cutaneous Melanoma

0.020

1.000

2013

2016

dbSNP:

rs121912654

TP53

0.683

0.400

7675143

missense variant

C/A;T

snv

4.0E-05

CUI:	C0678222
Disease:	Breast Carcinoma

Breast Carcinoma

0.020

1.000

2008

dbSNP:

rs121912654

TP53

0.683

0.400

7675143

missense variant

C/A;T

snv

4.0E-05

CUI:	C2752147
Disease:	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C

0.020

1.000

2013

2016

dbSNP:

rs121912654

TP53

0.683

0.400

7675143

missense variant

C/A;T

snv

4.0E-05

CUI:	C0268140
Disease:	Xeroderma pigmentosum, group F

Xeroderma pigmentosum, group F

0.020

1.000

2013

2016

dbSNP:

rs121912654

TP53

0.683

0.400

7675143

missense variant

C/A;T

snv

4.0E-05

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

0.020

1.000

2008

dbSNP:

rs121912654

TP53

0.683

0.400

7675143

missense variant

C/A;T

snv

4.0E-05

CUI:	C0079744
Disease:	Diffuse Large B-Cell Lymphoma

Diffuse Large B-Cell Lymphoma

0.010

1.000

2007

dbSNP:

rs121912654

TP53

0.683

0.400

7675143

missense variant

C/A;T

snv

4.0E-05

CUI:	C0242379
Disease:	Malignant neoplasm of lung

Malignant neoplasm of lung

0.010

1.000

2020

dbSNP:

rs121912654

TP53

0.683

0.400

7675143

missense variant

C/A;T

snv

4.0E-05

CUI:	C0684249
Disease:	Carcinoma of lung

Carcinoma of lung

0.010

1.000

2020

dbSNP:

rs121912654

TP53

0.683

0.400

7675143

missense variant

C/A;T

snv

4.0E-05

CUI:	C1336076
Disease:	Sporadic Breast Carcinoma

Sporadic Breast Carcinoma

0.010

1.000

2004

dbSNP:

rs121912654

TP53

0.683

0.400

7675143

missense variant

C/A;T

snv

4.0E-05

CUI:	C1136033
Disease:	Cutaneous Mastocytosis

Cutaneous Mastocytosis

0.010

1.000

2016

dbSNP:

rs121912654

TP53

0.683

0.400

7675143

missense variant

C/A;T

snv

4.0E-05

CUI:	C0079774
Disease:	Peripheral T-Cell Lymphoma

Peripheral T-Cell Lymphoma

0.010

1.000

2007

dbSNP:

rs121912654

TP53

0.683

0.400

7675143

missense variant

C/A;T

snv

4.0E-05

CUI:	C0238461
Disease:	Anaplastic thyroid carcinoma

Anaplastic thyroid carcinoma

0.010

1.000

2018

dbSNP:

rs121912654

TP53

0.683

0.400

7675143

missense variant

C/A;T

snv

4.0E-05

CUI:	C0546837
Disease:	Malignant neoplasm of esophagus

Malignant neoplasm of esophagus

0.010

1.000

2010

dbSNP:

rs121912654

TP53

0.683

0.400

7675143

missense variant

C/A;T

snv

4.0E-05

CUI:	C1306460
Disease:	Primary malignant neoplasm of lung

Primary malignant neoplasm of lung

0.010

1.000

2020

dbSNP:

rs121912654

TP53

0.683

0.400

7675143

missense variant

C/A;T

snv

4.0E-05

CUI:	C0014859
Disease:	Esophageal Neoplasms

Esophageal Neoplasms

0.010

1.000

2010

dbSNP:

rs121912654

TP53

0.683

0.400

7675143

missense variant

C/A;T

snv

4.0E-05

CUI:	C0152018
Disease:	Esophageal carcinoma

Esophageal carcinoma

0.010

1.000

2010

dbSNP:

rs121912654

TP53

0.683

0.400

7675143

missense variant

C/A;T

snv

4.0E-05

CUI:	C0001339
Disease:	Acute pancreatitis

Acute pancreatitis

0.010

1.000

2017